Associated Papers
Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.
Wu J et al.
Molecular Genetics & Genomic Medicine, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.
Yau WY et al.
Brain Communications, 2025
40488180 (PubMed )
Supplement: fcaf188_supplementary_data.pdf
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Bernhardt I et al.
Molecular Genetics and Metabolism, 2024
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